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Protein

CGG triplet repeat-binding protein 1

Gene

CGGBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.1 Publication

Miscellaneous

Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the binding motif.

GO - Molecular functioni

  • double-stranded DNA binding Source: ProtInc
  • identical protein binding Source: IntAct
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: NTNU_SB

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
CGG triplet repeat-binding protein 1
Short name:
CGG-binding protein 1
Alternative name(s):
20 kDa CGG-binding protein
p20-CGGBP DNA-binding protein
Gene namesi
Name:CGGBP1
Synonyms:CGGBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163320.10.
HGNCiHGNC:1888. CGGBP1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi8545.
OpenTargetsiENSG00000163320.
PharmGKBiPA26441.

Polymorphism and mutation databases

BioMutaiCGGBP1.
DMDMi116243045.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002524151 – 167CGG triplet repeat-binding protein 1Add BLAST167

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei56PhosphoserineCombined sources1
Modified residuei164PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UFW8.
MaxQBiQ9UFW8.
PaxDbiQ9UFW8.
PeptideAtlasiQ9UFW8.
PRIDEiQ9UFW8.

PTM databases

iPTMnetiQ9UFW8.
PhosphoSitePlusiQ9UFW8.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain.1 Publication

Developmental stagei

Expressed in fetal brain and kidney. Lower expression in fetal liver and lung.1 Publication

Gene expression databases

BgeeiENSG00000163320.
CleanExiHS_CGGBP1.
ExpressionAtlasiQ9UFW8. baseline and differential.
GenevisibleiQ9UFW8. HS.

Organism-specific databases

HPAiHPA035568.
HPA037017.

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi114115. 22 interactors.
IntActiQ9UFW8. 21 interactors.
MINTiMINT-4540962.
STRINGi9606.ENSP00000381428.

Structurei

3D structure databases

ProteinModelPortaliQ9UFW8.
SMRiQ9UFW8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi80 – 84Nuclear localization signalSequence analysis5

Phylogenomic databases

eggNOGiENOG410IE4P. Eukaryota.
ENOG41111EK. LUCA.
GeneTreeiENSGT00390000017898.
HOGENOMiHOG000000684.
HOVERGENiHBG081129.
InParanoidiQ9UFW8.
OMAiFGSELHE.
OrthoDBiEOG091G0O2H.
PhylomeDBiQ9UFW8.
TreeFamiTF335518.

Family and domain databases

InterProiView protein in InterPro
IPR033375. Cggbp1.
PANTHERiPTHR32344. PTHR32344. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UFW8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MERFVVTAPP ARNRSKTALY VTPLDRVTEF GGELHEDGGK LFCTSCNVVL
60 70 80 90 100
NHVRKSAISD HLKSKTHTKR KAEFEEQNVR KKQRPLTASL QCNSTAQTEK
110 120 130 140 150
VSVIQDFVKM CLEANIPLEK ADHPAVRAFL SRHVKNGGSI PKSDQLRRAY
160
LPDGYENENQ LLNSQDC
Length:167
Mass (Da):18,820
Last modified:October 17, 2006 - v2
Checksum:i1AF69CDB885BB8AD
GO

Sequence cautioni

The sequence CAB55894 differs from that shown. Reason: Frameshift at position 149.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti165Q → R in CAB55894 (PubMed:14667814).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000258 mRNA. Translation: CAA03974.1.
AF094481 Genomic DNA. Translation: AAD04161.1.
CR456854 mRNA. Translation: CAG33135.1.
AL117392 mRNA. Translation: CAB55894.1. Frameshift.
AM393707 mRNA. Translation: CAL38583.1.
CH471110 Genomic DNA. Translation: EAW68863.1.
CH471110 Genomic DNA. Translation: EAW68864.1.
BC052980 mRNA. Translation: AAH52980.1.
CCDSiCCDS43111.1.
PIRiT17204.
RefSeqiNP_001008391.1. NM_001008390.1.
NP_001182237.1. NM_001195308.1.
NP_003654.3. NM_003663.3.
XP_016862844.1. XM_017007355.1.
UniGeneiHs.444818.

Genome annotation databases

EnsembliENST00000309534; ENSP00000381428; ENSG00000163320.
ENST00000398392; ENSP00000381429; ENSG00000163320.
ENST00000462901; ENSP00000418769; ENSG00000163320.
ENST00000482016; ENSP00000420374; ENSG00000163320.
GeneIDi8545.
KEGGihsa:8545.
UCSCiuc003dqs.4. human.

Similar proteinsi

Entry informationi

Entry nameiCGBP1_HUMAN
AccessioniPrimary (citable) accession number: Q9UFW8
Secondary accession number(s): D3DU38, O15183
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: September 27, 2017
This is version 120 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot